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    KANK1 KN motif and ankyrin repeat domains 1 [ Homo sapiens (human) ]

    Gene ID: 23189, updated on 9-Dec-2024

    Summary

    Official Symbol
    KANK1provided by HGNC
    Official Full Name
    KN motif and ankyrin repeat domains 1provided by HGNC
    Primary source
    HGNC:HGNC:19309
    See related
    Ensembl:ENSG00000107104 MIM:607704; AllianceGenome:HGNC:19309
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KANK; CPSQ2; ANKRD15
    Summary
    The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]
    Expression
    Ubiquitous expression in esophagus (RPKM 11.7), heart (RPKM 11.6) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KANK1 in Genome Data Viewer
    Location:
    9p24.3
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (470295..746103)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (469752..745414)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (470295..746103)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene dedicator of cytokinesis 8 Neighboring gene uncharacterized LOC124902108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28118 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:469879-470404 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:477887-478386 Neighboring gene DOCK8 antisense RNA 2 Neighboring gene translation initiation factor IF-2-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19725 Neighboring gene ribosomal protein L12 pseudogene 25 Neighboring gene family with sequence similarity 217 member A pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:537214-537426 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:557803-558354 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:574431-575270 Neighboring gene RNA, U6 small nuclear 1327, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:621337-622536 Neighboring gene MPRA-validated peak7200 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:671014-671514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:671515-672015 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:673911-674631 Neighboring gene phosphatidylinositol 4,5-bisphosphate 5-phosphatase A-like Neighboring gene eukaryotic translation initiation factor 1 pseudogene 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:737889-739088 Neighboring gene uncharacterized LOC124902109 Neighboring gene Sharpr-MPRA regulatory region 15053 Neighboring gene uncharacterized LOC105375949

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Cerebral palsy, spastic quadriplegic, 2
    MedGen: C2752061 OMIM: 612900 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2016-04-28)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2016-04-28)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
    EBI GWAS Catalog
    Genome-wide association study of lung function decline in adults with and without asthma.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ18161, KIAA0172, MGC43128, DKFZp451G231

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-catenin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-macromolecule adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cortical microtubule organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of Rho protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of actin filament polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within negative regulation of actin filament polymerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of actin filament polymerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of insulin receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of lamellipodium morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of neuron projection development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of ruffle assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of substrate adhesion-dependent cell spreading IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in podocyte cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of wound healing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of Rho protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of establishment of cell polarity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell cortex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in ruffle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    KN motif and ankyrin repeat domain-containing protein 1
    Names
    ankyrin repeat domain-containing protein 15
    kidney ankyrin repeat-containing protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016331.3 RefSeqGene

      Range
      39402..280810
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001256876.3NP_001243805.1  KN motif and ankyrin repeat domain-containing protein 1 isoform L

      See identical proteins and their annotated locations for NP_001243805.1

      Status: REVIEWED

      Source sequence(s)
      AL136979, AL161725
      Consensus CDS
      CCDS34976.1
      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
      Related
      ENSP00000371740.1, ENST00000382303.5
      Conserved Domains (4) summary
      cd00204
      Location:11561287
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:12341264
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3068
      KN_motif; KN motif
      cl25732
      Location:264528
      SMC_N; RecF/RecN/SMC N terminal domain
    2. NM_001256877.3NP_001243806.1  KN motif and ankyrin repeat domain-containing protein 1 isoform L

      See identical proteins and their annotated locations for NP_001243806.1

      Status: REVIEWED

      Source sequence(s)
      AL136979, AL161725, AL392089
      Consensus CDS
      CCDS34976.1
      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
      Conserved Domains (4) summary
      cd00204
      Location:11561287
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:12341264
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3068
      KN_motif; KN motif
      cl25732
      Location:264528
      SMC_N; RecF/RecN/SMC N terminal domain
    3. NM_001354331.2NP_001341260.1  KN motif and ankyrin repeat domain-containing protein 1 isoform c

      Status: REVIEWED

      Source sequence(s)
      AL136979, AL161725
      Consensus CDS
      CCDS94372.1
      UniProtKB/TrEMBL
      A0A8I5KT40, A8KAC4
      Related
      ENSP00000509034.1, ENST00000691319.1
      Conserved Domains (6) summary
      COG0666
      Location:10531208
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      COG1196
      Location:260484
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG1511
      Location:6961103
      YhgE; Uncharacterized membrane protein YhgE, phage infection protein (PIP) family [Function unknown]
      sd00045
      Location:11541184
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3068
      KN_motif; KN motif
      pfam12796
      Location:11581243
      Ank_2; Ankyrin repeats (3 copies)
    4. NM_001354332.2NP_001341261.1  KN motif and ankyrin repeat domain-containing protein 1 isoform d

      Status: REVIEWED

      Source sequence(s)
      AL136979, AL161725
      UniProtKB/TrEMBL
      A8KAC4
      Conserved Domains (4) summary
      cd00204
      Location:11381269
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:12161246
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3068
      KN_motif; KN motif
      cl25732
      Location:264528
      SMC_N; RecF/RecN/SMC N terminal domain
    5. NM_001354333.2NP_001341262.1  KN motif and ankyrin repeat domain-containing protein 1 isoform S

      Status: REVIEWED

      Source sequence(s)
      AL136979, AL161725
      Consensus CDS
      CCDS6441.1
      UniProtKB/TrEMBL
      Q6PIB3
      Conserved Domains (3) summary
      cd00204
      Location:9981129
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:10761106
      ANK; ANK repeat [structural motif]
      cl25732
      Location:106370
      SMC_N; RecF/RecN/SMC N terminal domain
    6. NM_001354334.2NP_001341263.1  KN motif and ankyrin repeat domain-containing protein 1 isoform L

      Status: REVIEWED

      Source sequence(s)
      AL136979, AL161725
      Consensus CDS
      CCDS34976.1
      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
      Related
      ENSP00000508451.1, ENST00000689779.1
      Conserved Domains (4) summary
      cd00204
      Location:11561287
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:12341264
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3068
      KN_motif; KN motif
      cl25732
      Location:264528
      SMC_N; RecF/RecN/SMC N terminal domain
    7. NM_001354335.2NP_001341264.1  KN motif and ankyrin repeat domain-containing protein 1 isoform S

      Status: REVIEWED

      Source sequence(s)
      AL136979
      Consensus CDS
      CCDS6441.1
      UniProtKB/TrEMBL
      Q6PIB3
      Related
      ENSP00000509433.1, ENST00000690372.1
      Conserved Domains (3) summary
      cd00204
      Location:9981129
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:10761106
      ANK; ANK repeat [structural motif]
      cl25732
      Location:106370
      SMC_N; RecF/RecN/SMC N terminal domain
    8. NM_001354336.2NP_001341265.1  KN motif and ankyrin repeat domain-containing protein 1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL136979
      Consensus CDS
      CCDS94373.1
      UniProtKB/TrEMBL
      A0A8I5KRP2, A0A8I5KUM3
      Conserved Domains (4) summary
      cd00204
      Location:9001031
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:9781008
      ANK; ANK repeat [structural motif]
      cl19580
      Location:538927
      YhgE; Uncharacterized membrane protein YhgE, phage infection protein (PIP) family [Function unknown]
      cl25732
      Location:106370
      SMC_N; RecF/RecN/SMC N terminal domain
    9. NM_001354337.2NP_001341266.1  KN motif and ankyrin repeat domain-containing protein 1 isoform S

      Status: REVIEWED

      Source sequence(s)
      AL136979
      Consensus CDS
      CCDS6441.1
      UniProtKB/TrEMBL
      Q6PIB3
      Related
      ENSP00000510058.1, ENST00000687796.1
      Conserved Domains (3) summary
      cd00204
      Location:9981129
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:10761106
      ANK; ANK repeat [structural motif]
      cl25732
      Location:106370
      SMC_N; RecF/RecN/SMC N terminal domain
    10. NM_001354338.2NP_001341267.1  KN motif and ankyrin repeat domain-containing protein 1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AL136979
      UniProtKB/TrEMBL
      Q6PIB3
      Conserved Domains (3) summary
      cd00204
      Location:9801111
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:10581088
      ANK; ANK repeat [structural motif]
      cl25732
      Location:106370
      SMC_N; RecF/RecN/SMC N terminal domain
    11. NM_001354339.2NP_001341268.1  KN motif and ankyrin repeat domain-containing protein 1 isoform g

      Status: REVIEWED

      Source sequence(s)
      AL136979
      Consensus CDS
      CCDS94374.1
      UniProtKB/TrEMBL
      A0A8I5KUD8, A0A8I5KZ49
      Related
      ENSP00000510316.1, ENST00000692757.1
      Conserved Domains (4) summary
      cd00204
      Location:9181049
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:9961026
      ANK; ANK repeat [structural motif]
      cl19580
      Location:538945
      YhgE; Uncharacterized membrane protein YhgE, phage infection protein (PIP) family [Function unknown]
      cl25732
      Location:106370
      SMC_N; RecF/RecN/SMC N terminal domain
    12. NM_001354340.2NP_001341269.1  KN motif and ankyrin repeat domain-containing protein 1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AL136979
      UniProtKB/TrEMBL
      Q6PIB3
      Conserved Domains (3) summary
      cd00204
      Location:9801111
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:10581088
      ANK; ANK repeat [structural motif]
      cl25732
      Location:106370
      SMC_N; RecF/RecN/SMC N terminal domain
    13. NM_001354341.2NP_001341270.1  KN motif and ankyrin repeat domain-containing protein 1 isoform S

      Status: REVIEWED

      Source sequence(s)
      AL136979
      Consensus CDS
      CCDS6441.1
      UniProtKB/TrEMBL
      Q6PIB3
      Conserved Domains (3) summary
      cd00204
      Location:9981129
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:10761106
      ANK; ANK repeat [structural motif]
      cl25732
      Location:106370
      SMC_N; RecF/RecN/SMC N terminal domain
    14. NM_001354342.2NP_001341271.1  KN motif and ankyrin repeat domain-containing protein 1 isoform g

      Status: REVIEWED

      Source sequence(s)
      AL136979
      Consensus CDS
      CCDS94374.1
      UniProtKB/TrEMBL
      A0A8I5KUD8, A0A8I5KZ49
      Related
      ENSP00000510515.1, ENST00000693143.1
      Conserved Domains (4) summary
      cd00204
      Location:9181049
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:9961026
      ANK; ANK repeat [structural motif]
      cl19580
      Location:538945
      YhgE; Uncharacterized membrane protein YhgE, phage infection protein (PIP) family [Function unknown]
      cl25732
      Location:106370
      SMC_N; RecF/RecN/SMC N terminal domain
    15. NM_001354343.2NP_001341272.1  KN motif and ankyrin repeat domain-containing protein 1 isoform g

      Status: REVIEWED

      Source sequence(s)
      AL136979
      Consensus CDS
      CCDS94374.1
      UniProtKB/TrEMBL
      A0A8I5KUD8, A0A8I5KZ49
      Conserved Domains (4) summary
      cd00204
      Location:9181049
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:9961026
      ANK; ANK repeat [structural motif]
      cl19580
      Location:538945
      YhgE; Uncharacterized membrane protein YhgE, phage infection protein (PIP) family [Function unknown]
      cl25732
      Location:106370
      SMC_N; RecF/RecN/SMC N terminal domain
    16. NM_001354344.2NP_001341273.1  KN motif and ankyrin repeat domain-containing protein 1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AL136979
      UniProtKB/TrEMBL
      Q6PIB3
      Related
      ENSP00000508606.1, ENST00000685380.1
      Conserved Domains (3) summary
      cd00204
      Location:9801111
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:10581088
      ANK; ANK repeat [structural motif]
      cl25732
      Location:106370
      SMC_N; RecF/RecN/SMC N terminal domain
    17. NM_015158.5NP_055973.2  KN motif and ankyrin repeat domain-containing protein 1 isoform L

      See identical proteins and their annotated locations for NP_055973.2

      Status: REVIEWED

      Source sequence(s)
      AL136979, AL161725
      Consensus CDS
      CCDS34976.1
      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
      Related
      ENSP00000371734.2, ENST00000382297.7
      Conserved Domains (4) summary
      cd00204
      Location:11561287
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:12341264
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3068
      KN_motif; KN motif
      cl25732
      Location:264528
      SMC_N; RecF/RecN/SMC N terminal domain
    18. NM_153186.6NP_694856.1  KN motif and ankyrin repeat domain-containing protein 1 isoform S

      Status: REVIEWED

      Source sequence(s)
      AL136979
      Consensus CDS
      CCDS6441.1
      UniProtKB/TrEMBL
      Q6PIB3
      Related
      ENSP00000371730.3, ENST00000382293.7
      Conserved Domains (3) summary
      cd00204
      Location:9981129
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:10761106
      ANK; ANK repeat [structural motif]
      cl25732
      Location:106370
      SMC_N; RecF/RecN/SMC N terminal domain

    RNA

    1. NR_148869.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136979
      Related
      ENST00000688039.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      470295..746103
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423041.1XP_047278997.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
    2. XM_047423067.1XP_047279023.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A8I5KT40, A8KAC4
    3. XM_047423060.1XP_047279016.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A8KAC4
    4. XM_047423073.1XP_047279029.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X4

      UniProtKB/TrEMBL
      A8KAC4
    5. XM_047423058.1XP_047279014.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A8KAC4
    6. XM_047423040.1XP_047278996.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
    7. XM_047423066.1XP_047279022.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A8I5KT40, A8KAC4
    8. XM_047423059.1XP_047279015.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A8KAC4
    9. XM_047423049.1XP_047279005.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
    10. XM_047423053.1XP_047279009.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
    11. XM_047423050.1XP_047279006.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
    12. XM_047423043.1XP_047278999.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
    13. XM_047423051.1XP_047279007.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
    14. XM_047423047.1XP_047279003.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
    15. XM_047423048.1XP_047279004.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
    16. XM_047423042.1XP_047278998.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
    17. XM_047423044.1XP_047279000.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
    18. XM_047423052.1XP_047279008.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
    19. XM_047423057.1XP_047279013.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
    20. XM_024447463.2XP_024303231.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
      Conserved Domains (4) summary
      cd00204
      Location:11561287
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:12341264
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3068
      KN_motif; KN motif
      cl25732
      Location:264528
      SMC_N; RecF/RecN/SMC N terminal domain
    21. XM_024447465.2XP_024303233.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
      Conserved Domains (4) summary
      cd00204
      Location:11561287
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:12341264
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3068
      KN_motif; KN motif
      cl25732
      Location:264528
      SMC_N; RecF/RecN/SMC N terminal domain
    22. XM_047423069.1XP_047279025.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A8I5KT40, A8KAC4
    23. XM_047423062.1XP_047279018.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A8KAC4
    24. XM_047423056.1XP_047279012.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
    25. XM_047423045.1XP_047279001.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
    26. XM_047423068.1XP_047279024.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A8I5KT40, A8KAC4
      Related
      ENSP00000510088.1, ENST00000689926.1
    27. XM_047423061.1XP_047279017.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A8KAC4
    28. XM_047423071.1XP_047279027.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X4

      UniProtKB/TrEMBL
      A8KAC4
    29. XM_047423055.1XP_047279011.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
    30. XM_047423054.1XP_047279010.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
      Related
      ENSP00000508833.1, ENST00000685947.1
    31. XM_047423065.1XP_047279021.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A8KAC4
    32. XM_024447466.2XP_024303234.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
      Conserved Domains (4) summary
      cd00204
      Location:11561287
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:12341264
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3068
      KN_motif; KN motif
      cl25732
      Location:264528
      SMC_N; RecF/RecN/SMC N terminal domain
    33. XM_024447467.2XP_024303235.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
      Conserved Domains (4) summary
      cd00204
      Location:11561287
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:12341264
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3068
      KN_motif; KN motif
      cl25732
      Location:264528
      SMC_N; RecF/RecN/SMC N terminal domain
    34. XM_047423063.1XP_047279019.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A8KAC4
    35. XM_047423046.1XP_047279002.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A2A2W8, D3DRH3, Q14678, Q5W0W0, Q8IY65, Q8WX74
      UniProtKB/TrEMBL
      A8KAC4
    36. XM_047423070.1XP_047279026.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A8I5KT40, A8KAC4
    37. XM_047423064.1XP_047279020.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A8KAC4
    38. XM_047423072.1XP_047279028.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X4

      UniProtKB/TrEMBL
      A8KAC4
    39. XM_047423074.1XP_047279030.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X5

      UniProtKB/TrEMBL
      Q6PIB3
    40. XM_047423076.1XP_047279032.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X7

      UniProtKB/TrEMBL
      A0A8I5KUD8, A0A8I5KZ49
    41. XM_047423075.1XP_047279031.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X6

      UniProtKB/TrEMBL
      Q6PIB3
    42. XM_047423077.1XP_047279033.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X8

      UniProtKB/TrEMBL
      A0A8I5KRP2, A0A8I5KUM3
    43. XM_047423079.1XP_047279035.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X9

      UniProtKB/TrEMBL
      A0A8I5KSV2
    44. XM_047423078.1XP_047279034.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X8

      UniProtKB/TrEMBL
      A0A8I5KRP2, A0A8I5KUM3
      Related
      ENSP00000509347.1, ENST00000693021.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      469752..745414
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362460.1XP_054218435.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A8KAC4
    2. XM_054362463.1XP_054218438.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A8KAC4
    3. XM_054362468.1XP_054218443.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A8KAC4
    4. XM_054362485.1XP_054218460.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      A8KAC4
    5. XM_054362478.1XP_054218453.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A8KAC4
    6. XM_054362476.1XP_054218451.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A8KAC4
    7. XM_054362477.1XP_054218452.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A8KAC4
    8. XM_054362470.1XP_054218445.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A8KAC4
    9. XM_054362472.1XP_054218447.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A8KAC4
    10. XM_054362475.1XP_054218450.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A8KAC4
    11. XM_054362461.1XP_054218436.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A8KAC4
    12. XM_054362488.1XP_054218463.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      A8KAC4
    13. XM_054362481.1XP_054218456.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A8KAC4
    14. XM_054362473.1XP_054218448.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A8KAC4
    15. XM_054362464.1XP_054218439.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A8KAC4
    16. XM_054362487.1XP_054218462.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      A8KAC4
    17. XM_054362480.1XP_054218455.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A8KAC4
    18. XM_054362462.1XP_054218437.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A8KAC4
    19. XM_054362492.1XP_054218467.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X4

      UniProtKB/TrEMBL
      A8KAC4
    20. XM_054362490.1XP_054218465.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      A8KAC4
    21. XM_054362483.1XP_054218458.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A8KAC4
    22. XM_054362465.1XP_054218440.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A8KAC4
    23. XM_054362474.1XP_054218449.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A8KAC4
    24. XM_054362471.1XP_054218446.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A8KAC4
    25. XM_054362486.1XP_054218461.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      A8KAC4
    26. XM_054362479.1XP_054218454.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A8KAC4
    27. XM_054362494.1XP_054218469.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X4

      UniProtKB/TrEMBL
      A8KAC4
    28. XM_054362489.1XP_054218464.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      A8KAC4
    29. XM_054362469.1XP_054218444.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A8KAC4
    30. XM_054362482.1XP_054218457.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A8KAC4
    31. XM_054362466.1XP_054218441.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A8KAC4
    32. XM_054362467.1XP_054218442.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A8KAC4
    33. XM_054362491.1XP_054218466.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      A8KAC4
    34. XM_054362484.1XP_054218459.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A8KAC4
    35. XM_054362493.1XP_054218468.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X4

      UniProtKB/TrEMBL
      A8KAC4
    36. XM_054362500.1XP_054218475.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X9

      UniProtKB/TrEMBL
      A0A8I5KSV2
    37. XM_054362498.1XP_054218473.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X8

      UniProtKB/TrEMBL
      A0A8I5KUM3
    38. XM_054362496.1XP_054218471.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X6

      UniProtKB/TrEMBL
      Q6PIB3
    39. XM_054362497.1XP_054218472.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X7

      UniProtKB/TrEMBL
      A0A8I5KUD8
    40. XM_054362495.1XP_054218470.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X5

      UniProtKB/TrEMBL
      Q6PIB3
    41. XM_054362499.1XP_054218474.1  KN motif and ankyrin repeat domain-containing protein 1 isoform X8

      UniProtKB/TrEMBL
      A0A8I5KUM3